ClinVar Miner

List of variants in gene TSHZ1 reported as uncertain significance for aural atresia, congenital

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_005786.6(TSHZ1):c.*441_*442dup rs777123658
NM_005786.6(TSHZ1):c.*442_*445del rs886054119
NM_005786.6(TSHZ1):c.*482A>C rs886054120
NM_005786.6(TSHZ1):c.*548T>C rs886054121
NM_005786.6(TSHZ1):c.*731T>C rs886054122
NM_005786.6(TSHZ1):c.-108C>T rs376999134
NM_005786.6(TSHZ1):c.-117C>T rs886054110
NM_005786.6(TSHZ1):c.-188C>G rs763707409
NM_005786.6(TSHZ1):c.-189G>A rs762506031
NM_005786.6(TSHZ1):c.-248A>C rs886054109
NM_005786.6(TSHZ1):c.-267A>G rs886054108
NM_005786.6(TSHZ1):c.-328dup rs66582660
NM_005786.6(TSHZ1):c.-329_-328dup rs66582660
NM_005786.6(TSHZ1):c.-336A>G rs372174307
NM_005786.6(TSHZ1):c.-381T>C rs886054107
NM_005786.6(TSHZ1):c.-432dup rs372787732
NM_005786.6(TSHZ1):c.-433_-432dup rs372787732
NM_005786.6(TSHZ1):c.-439G>T rs530328522
NM_005786.6(TSHZ1):c.-443A>G rs376918326
NM_005786.6(TSHZ1):c.-443_-441del rs886054104
NM_005786.6(TSHZ1):c.-443_-442del rs376458726
NM_005786.6(TSHZ1):c.-443_-442dup rs376458726
NM_005786.6(TSHZ1):c.-443del rs886054105
NM_005786.6(TSHZ1):c.-444_-443insGG rs767833741
NM_005786.6(TSHZ1):c.-444dup rs767833741
NM_005786.6(TSHZ1):c.-445dup rs886054103
NM_005786.6(TSHZ1):c.-49G>T rs886054111
NM_005786.6(TSHZ1):c.-501A>G rs886054102
NM_005786.6(TSHZ1):c.-508G>A rs886054101
NM_005786.6(TSHZ1):c.1452C>T (p.Pro484=) rs886054113
NM_005786.6(TSHZ1):c.1689C>T (p.Gly563=) rs749431944
NM_005786.6(TSHZ1):c.169T>G (p.Cys57Gly) rs886054112
NM_005786.6(TSHZ1):c.1710C>T (p.Ala570=) rs766284453
NM_005786.6(TSHZ1):c.1771G>A (p.Val591Met) rs200947838
NM_005786.6(TSHZ1):c.1849_1851del (p.Glu617del) rs756583304
NM_005786.6(TSHZ1):c.2065A>C (p.Met689Leu) rs886054115
NM_005786.6(TSHZ1):c.2078C>T (p.Pro693Leu) rs370322226
NM_005786.6(TSHZ1):c.2129C>A (p.Thr710Asn) rs886054116
NM_005786.6(TSHZ1):c.2272T>C (p.Tyr758His) rs61732783
NM_005786.6(TSHZ1):c.2362C>T (p.Arg788Trp) rs771294029
NM_005786.6(TSHZ1):c.2546C>T (p.Pro849Leu) rs886054117
NM_005786.6(TSHZ1):c.2763G>C (p.Gly921=) rs768042138
NM_005786.6(TSHZ1):c.3045C>T (p.His1015=) rs762049001

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